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    GENE:

    MSH6 (MutS homolog 6)

    i
    Other names: MSH6, GTBP, MutS homolog 6
    4d
    Case Report: Synchronous colorectal adenocarcinomas with discordant mismatch repair status: a case of lynch-like syndrome and serrated pathway association. (PubMed, Front Oncol)
    Lesion-specific molecular characterization combined with regional lymph node MMR phenotyping is critical for the precise management of SCRCs with discordant MMR status. This case provides a referable diagnostic workflow and surgical decision-making framework for this rare clinical scenario, supporting risk-adapted individualized therapy for molecularly heterogeneous colorectal cancer.
    Journal • Mismatch repair
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    BRAF (B-raf proto-oncogene) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    BRAF V600E • MSI-H/dMMR • BRAF wild-type
    4d
    Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report. (PubMed, Mol Syndromol)
    The patient's phenotype is consistent with SIX3 haploinsufficiency leading to severe forebrain division insufficiency; the adjacent MMR deletion defines the Lynch susceptibility locus. We emphasize the need to consider the risk of cancer in later life, in addition to the currently available findings.
    Journal
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    MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    4d
    Molecular profile of residual triple-negative breast cancer: opportunities for post-neoadjuvant therapeutic interventions. (PubMed, NPJ Breast Cancer)
    Moreover, 208 potential neo-peptide targets (median per patient n = 3) were detected across recurrently mutated genes such as ATM, CREBBP, IRS2, KEAP1, MSH6, NOTCH1, NOTCH2, POLD1, TP53, and TSC2. Molecular profiling of residual disease in extensively poor responding TNBC post-NAC revealed multiple potentially targetable variant, supporting the use of next-generation sequencing to guide personalized strategies for these high-risk TNBC patients.
    Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • KEAP1 (Kelch Like ECH Associated Protein 1) • MSH6 (MutS homolog 6) • TSC2 (TSC complex subunit 2) • NOTCH2 (Notch 2) • CREBBP (CREB binding protein) • POLD1 (DNA Polymerase Delta 1) • IRS2 (Insulin receptor substrate 2)
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    TP53 mutation • ATM mutation
    8d
    Transvaginal Ultrasound and Photoacoustic Imaging of Ovary (clinicaltrials.gov)
    P=N/A, N=185, Terminated, Washington University School of Medicine | N=310 --> 185 | Trial completion date: Jan 2027 --> Mar 2026 | Recruiting --> Terminated | Trial primary completion date: Jan 2027 --> Mar 2026; Loss of space for imaging
    Enrollment change • Trial completion date • Trial termination • Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1)
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    BARD1 mutation
    8d
    The contribution of rare germline variants to the immune landscape of breast cancer. (PubMed, Genome Med)
    Our findings support a role of rare pathogenic germline variants involved in DNA damage repair, and particularly those predisposing to breast cancer, in the immune landscape of breast tumors. These insights may help guide the development of immunomodulatory strategies for breast cancer prevention and treatment.
    Journal • BRCA Biomarker
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    ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CD20 (Membrane Spanning 4-Domains A1) • CD8 (cluster of differentiation 8) • PALB2 (Partner and localizer of BRCA2) • MSH6 (MutS homolog 6) • CD163 (CD163 Molecule) • RAD51D (RAD51 paralog D) • FOXP3 (Forkhead Box P3)
    8d
    Risk-reducing gynecologic surgery decisions in Lynch syndrome at a safety-net hospital and university medical center. (PubMed, Gynecol Oncol)
    This exploratory analysis suggested a higher uptake of risk-reducing surgery at the safety-net hospital than at the university medical center. Understanding factors contributing to this difference will be critical to supporting gynecologic cancer risk management in Lynch syndrome.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    10d
    MLH1 promoter methylation, mismatch repair and intestinal differentiation markers in papillary thyroid carcinoma: real-world evidence from Galicia (Northwest Spain). (PubMed, Virchows Arch)
    MLH1 promoter methylation, MMR deficiency, and CDX2 are rare events in PTC and do not appear to influence PFS. Although infrequent, the expression of CDX2 is not exclusive to any PTC subtype.
    Journal • HEOR • Real-world evidence • Mismatch repair
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDX2 (Caudal Type Homeobox 2) • SATB2 (SATB Homeobox 2)
    10d
    Case Report: Rare malignant teratoma in the right posterior thigh. (PubMed, Front Oncol)
    Ser1329 *). This report provides information on the clinical course of rare malignant teratoma in the right posterior thigh, including treatment strategy and prognosis.
    Journal
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    MSH6 (MutS homolog 6) • CD99 (CD99 Molecule) • GFAP (Glial Fibrillary Acidic Protein)
    10d
    Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation (clinicaltrials.gov)
    P=N/A, N=289, Terminated, University Hospital, Rouen | Completed --> Terminated; Difficulty in enrolling patients
    Trial termination
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    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
    10d
    PREVENT-Lynch: Preventive Dendritic Cell Vaccination for Lynch Syndrome (clinicaltrials.gov)
    P1/2, N=13, Not yet recruiting, Radboud University Medical Center | N=23 --> 13
    Enrollment change
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    HLA-A (Major Histocompatibility Complex, Class I, A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    11d
    Nationwide genomic data analysis of central nervous system tumors in Japan based on C-CAT database. (PubMed, Int J Clin Oncol)
    FoundationOne® CDx exhibits greater number of mutations, copy number alterations, and generating therapeutic suggestions, while GenMineTOP excels in identifying fusion genes and germline variants. These findings underscore that each CGPT possesses distinct analytical strengths, and the choice of platform may influence the genomic landscape and therapeutic opportunities identified in CNS tumor patients.
    Journal • Tumor mutational burden • BRCA Biomarker
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    EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3) • MSH6 (MutS homolog 6) • KIAA1549 • SEPTIN14 (Septin 14) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)
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    TP53 mutation
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    FoundationOne® CDx
    12d
    The relationship between proteins of the mismatch repair system and the prognosis of prostate cancer: A systematic review. (PubMed, Genet Mol Biol)
    However, methodological heterogeneity and lack of standardization hinder definitive conclusions. Further studies, integrating MSI analyses are crucial to confirm their prognostic.
    Journal • Mismatch repair
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)